background participants

Participant 186

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 3, with multiple congenital anomalies of the hands (bent fingers, 3-4 finger syndactyly, hypoplastic fingernails), feet (bilateral foot ectrodactyly, talipes equinovarus ), eyes (microphthalmia, multiple colobomas, malformed globes), and kidneys (bilateral renal dysplasia) caused by a change in the AXIN2 gene

Date of Report

Jul 26, 2021


The participant was born with multiple congenital anomalies (borderline microcephaly, sparse hair, bent fingers, 3-4 finger syndactyly, talipes equinovarus, abnormal ears, hypoplastic fingernails, bilateral foot ectrodactyly, hypoplastic nipples, hypoplastic labia, proximally positioned anus). On ultrasound, she was found to have underdeveloped kidneys (bilateral renal dysplasia). Upon further evaluation, the participant was diagnosed with a narrowed nasal passageway (choanal stenosis) and multiple eye anomalies (microphthalmia, multiple colobomas, malformed globes).

At the time of her initial genetics evaluation, she was doing well but developed feeding difficulties and constipation soon after. She underwent an EEG for a concern of seizures, which was normal. She also underwent testing for an irregular heartbeat (heart arrhythmia), which resolved.

The participant has severe gastroesophageal reflux disease (GERD) and is dependent on a G-tube for feeding. She is in intensive feeding therapy and can eat and drink some orally, but continues to have a swallowing disorder.

She is a very active little girl and continues to make strides despite her long list of diagnoses.

Symptoms / Signs
  • Global developmental delay
  • Small head size (microcephaly)
  • Sparse hair and eyebrows
  • Absent or underdeveloped nails (aplasia/hypoplasia of the nails)
  • Eye abnormalities (microphthalmia; retinal, iris, and optic nerve coloboma; inferior lens subluxation)
  • Ear abnormalities (preauricular skin tag, hypoplastic helices)
  • Narrowed nasal opening (choanal stenosis)
  • Musculoskeletal abnormalities (3-4 finger syndactyly, split hand, split foot, short finger)
  • Gastroesophageal reflux (GERD)
  • Genitourinary abnormalities (vesicoureteral reflux)
  • Underdeveloped kidneys (bilateral renal dysplasia)
  • Underdeveloped nipples (hypoplastic nipples)
  • Constipation
Current Treatments
  • Clindamycin – antibiotic
  • Cyproheptadine – off label use for frequent vomiting
  • Ranitidine, esomeprazole magnesium, Nexium – GERD
  • SMO orthotic braces
  • Sulfatrim – UTI prophylaxis
  • Travaprost, Cosopt – eye pressure
  • Triamcinolone acetonide – skin rash
  • Vitamin D3 – low vitamin D
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Microdeletion/duplication syndrome
  • Single gene disorder
  • TP63-related disorders
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following de novo genetic change to see if they are causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change
Autosomal dominant
Autosomal dominant

If this participant sounds like you or someone you know, please contact us!


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